Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172854	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10176971	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10209368	0.97[ASN][1000 genomes]
rs12470429	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12470431	0.88[EUR][1000 genomes]
rs13031075	0.88[EUR][1000 genomes]
rs1346236	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365478	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114433	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162381	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288300	0.87[EUR][1000 genomes]
rs2288301	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372888	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508583	0.92[ASN][1000 genomes]
rs4535030	0.92[ASN][1000 genomes]
rs4671090	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671569	0.97[ASN][1000 genomes]
rs4671570	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7578955	0.90[CHD][hapmap];0.88[YRI][hapmap]
rs7596737	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4671568	SERTAD2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64591200-64599000	Weak transcription	Esophagus	oesophagus
2	chr2:64591800-64602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:64591800-64602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:64592800-64603600	Weak transcription	Pancreas	Pancrea
5	chr2:64595400-64601000	Weak transcription	Right Atrium	heart
6	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:64597600-64599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:64597600-64602600	Weak transcription	Gastric	stomach
9	chr2:64597800-64600600	Enhancers	HMEC	breast
10	chr2:64598200-64600600	Enhancers	NHEK	skin
11	chr2:64598400-64600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:64598400-64602600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:64598400-64602800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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